NeenaL.ChampaigneMD

PubMed

• Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
  Accogli, A., Shakya, S., Yang, T., Insinna, C., Kim, S., Bell, D., Butov, K., Severino, M., Niceta, M., Scala, M., Lee, H., Yoo, T., Stauffer, J., Zhao, H., Fiorillo, ...> ;Nature Communications. 2024 Jan 8
• 3 citations
  CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
  Charlotte Gehin, Museer A Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M Adeyemi, Erica H Gerkes, Alexander Pa Stegmann, Estrella López-Martín, Eva Bermejo-Sá...> ;The Journal of Clinical Investigation. 2023 May 15
• 2 citations
  DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
  Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, Matthew L Tedder, Raymond J Louie, Robin S Fletcher, Hannah W Moore, Anna Ch...> ;Genetics in Medicine. 2023 Jan 1
• 3-Methylglutaconic aciduria in carriers of primary carnitine deficiency.
  William B. Burns, Matt L. Tedder, Laura Pollard, Tim Wood, Neena L. Champaigne, Ziats, C., Ziats, C., Catherine A. Ziats> ;European Journal of Medical Genetics. 2021 Oct 9
• 19 citations
  A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
  Illja J. Diets, Trine Prescott, Neena L. Champaigne, Grazia M.S. Mancini, Bård Krossnes, Radek Frič, Kristina Kocsis, Marjolijn C.J. Jongmans, Tjitske Kleefstra> ;Genetics in Medicine. 2019 Mar 1
• 6 citations
  Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
  Hannah Warren, Raymond J. Louie, Michael J. Friez, Jaime L. Frias, Jules G. Leroy, Jürgen Spranger, Steven A. Skinner, Neena L. Champaigne> ;Clinical Case Reports. 2018 Oct 15
• 17 citations
  The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
  Nicolas Chatron, Rikke S. Møller, Neena L. Champaigne, Amy L Schneider, Alma Kuechler, Audrey Labalme, Thomas Simonet, Lauren Baggett, Claire Bardel, Erik-Jan Kamsteeg...> ;Annals of Neurology. 2018 May 1
• 2 citations
  New observation of sialuria prompts detection of liver tumor in previously reported patient
  Neena L. Champaigne, Jules G. Leroy, Priya S. Kishnani, J Decaestecker, Edwin Steenkiste, Alka Chaubey, Jiarui Li, Chris Verslype, Jo Van Dorpe, Laura Pollard, Jennife...> ;Molecular Genetics and Metabolism. 2016 Jun 1
• 6 citations
  Long-term observation of a patient with dominant omodysplasia.
  Barbara L. Gordon, Neena L. Champaigne, R. Curtis Rogers, Jaime L. Frias, Jules G. Leroy> ;American Journal of Medical Genetics. Part A. 2014 Jan 23
• Clinical utility of the X-chromosome array
  Yuri A. Zarate, Alka Dwivedi, Frank O. Bartel, M. Allison Bellomo, Sara S. Cathey, Neena L. Champaigne, L. Kate Clarkson, Barbara R. DuPont, David B. Everman, Joseph S...> ;American Journal of Medical Genetics. Part A. 2013 Jan 1
• 72 citations
  Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
  Jennifer L. Sloan, Jennifer J. Johnston, Irini Manoli, Randy J. Chandler, Caitlin Krause, Nuria Carrillo-Carrasco, Suma Chandrasekaran, Justin R. Sysol, Kevin O'Brien,...> ;Nature Genetics. 2011 Sep 1
• 22 citations
  Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.
  Irene De Biase, Neena L. Champaigne, Richard J. Schroer, Laura M. Pollard, Nicola Longo, Tim Wood> ;JIMD Reports. 2011 Jan 1
• 2 citations
  Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3-month-old with severe pediatric gastroesophageal reflux.
  Neena L. Champaigne, Nicole A. Laird, Jill K. Northup, Gopalrao V.N. Velagaleti> ;American Journal of Medical Genetics. Part A. 2009 Apr 1
• 5 citations
  Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents.
  Amy Stanford Wells, Hope Northrup, Sharon S Crandell, Terri M. King, Neena L. Champaigne, Michael Yafi, Bradford L. Therrell, Sarah Jane Noblin> ;Genetics in Medicine. 2009 Mar 1
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